Canonical Allele Identifier: CA360414478

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90684183C>T , CM000667.2:g.90684183C>T	GRCh38
NC_000005.9:g.89980000C>T , CM000667.1:g.89980000C>T	GRCh37
NC_000005.8:g.90015756C>T	NCBI36
NG_007083.1:g.130384C>T
NG_007083.2:g.159840C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.6262C>T MANE Select	NP_115495.3:p.Gln2088Ter
ENST00000405460.9:c.6262C>T MANE Select	ENSP00000384582.2:p.Gln2088Ter
NM_032119.3:c.6262C>T	NP_115495.3:p.Gln2088Ter
NR_003149.1:n.6358C>T
NR_003149.2:n.6361C>T
ENST00000405460.6:c.6262C>T	ENSP00000384582.2:p.Gln2088Ter
ENST00000639431.1:c.265+7974C>T	ENSP00000491057.1:n.265+7974C>T
ENST00000639473.1:n.1721C>T
ENST00000640012.1:c.165-1597C>T
ENST00000640403.1:c.3553C>T	ENSP00000492531.1:p.Gln1185Ter
ENST00000640779.1:c.1074C>T
XM_011543675.1:c.6259C>T	XP_011541977.1:p.Gln2087Ter
XM_011543676.1:c.6181C>T	XP_011541978.1:p.Gln2061Ter
XM_011543677.1:c.3565C>T	XP_011541979.1:p.Gln1189Ter
XM_011543678.1:c.6262C>T	XP_011541980.1:p.Gln2088Ter
XM_011543679.1:c.6262C>T	XP_011541981.1:p.Gln2088Ter
XM_017009963.2:c.6262C>T	XP_016865452.1:p.Gln2088Ter
XM_017009964.2:c.6259C>T	XP_016865453.1:p.Gln2087Ter
XM_017009965.1:c.6259C>T	XP_016865454.1:p.Gln2087Ter
XM_017009966.2:c.6181C>T	XP_016865455.1:p.Gln2061Ter
XM_017009967.1:c.6166C>T	XP_016865456.1:p.Gln2056Ter
XM_017009968.2:c.6262C>T	XP_016865457.1:p.Gln2088Ter
XM_017009969.2:c.6262C>T	XP_016865458.1:p.Gln2088Ter
XM_017009970.2:c.6262C>T	XP_016865459.1:p.Gln2088Ter
XM_017009971.2:c.6262C>T	XP_016865460.1:p.Gln2088Ter
XM_017009973.1:c.-538C>T	XP_016865462.1:n.-538C>T
XM_017009974.2:c.6262C>T	XP_016865463.1:p.Gln2088Ter